NIPT

NIPT analyzes non-invasive prenatal testing (NIPT) sequencing data from 2,683 pregnant Vietnamese women to profile genetic variation and identify disease-associated variants for population-specific genetic research.

Key Features:

• Large-Scale Genomic Analysis: Analyzes NIPT data from 2,683 pregnant Vietnamese women for population-scale genetic profiling.
• Variant Identification: Identifies 8,054,515 single-nucleotide polymorphisms (SNPs), of which 8.2% are novel in the Vietnamese population.
• Disease-Associated Variants: Detects 24,487 disease-associated variants and reports allele frequency distributions, including five pathogenic variants linked to prevalent genetic disorders in Vietnam.
• Population-Specific Insights: Reveals significant differences in allele frequency distributions between the Vietnamese population and other groups, highlighting the need for dedicated genome-wide association studies.
• Resource Creation: Produces a population-specific variant database to support future genetic studies of Vietnamese-specific traits and diseases.

Scientific Applications:

• Genetic Research: Enables analysis of genetic diversity and allele frequency spectra in the Vietnamese population.
• Public Health: Informs prevalence estimates of genetic disorders and population-level allele frequencies relevant to public health planning.
• Personalized Medicine: Supports development of genetically informed risk assessment and potential personalized interventions for the Vietnamese population.

Methodology:

The analysis pipeline is executed using a Python script (pipeline.py) that processes NIPT data to produce a Variant Call Format (VCF) file containing identified variants and allele frequencies.